Incidental Mutation 'R5076:Tcaf2'
ID |
395764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcaf2
|
Ensembl Gene |
ENSMUSG00000029851 |
Gene Name |
TRPM8 channel-associated factor 2 |
Synonyms |
Fam115c |
MMRRC Submission |
042665-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R5076 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
42599950-42622134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42606401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 518
(T518A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031879]
|
AlphaFold |
Q921K8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031879
AA Change: T518A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031879 Gene: ENSMUSG00000029851 AA Change: T518A
Domain | Start | End | E-Value | Type |
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
M60-like
|
543 |
842 |
4.85e-138 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131341
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.0%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,963,559 (GRCm39) |
I72V |
probably benign |
Het |
Aadacl3 |
G |
A |
4: 144,182,640 (GRCm39) |
P276L |
possibly damaging |
Het |
Acp6 |
T |
A |
3: 97,075,305 (GRCm39) |
S180T |
probably benign |
Het |
Adgrd1 |
A |
T |
5: 129,221,053 (GRCm39) |
R449* |
probably null |
Het |
Ak1 |
T |
C |
2: 32,523,460 (GRCm39) |
V176A |
probably damaging |
Het |
Capzb |
A |
T |
4: 139,015,125 (GRCm39) |
D226V |
possibly damaging |
Het |
Cd34 |
A |
T |
1: 194,630,338 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
C |
A |
8: 123,591,087 (GRCm39) |
D445E |
possibly damaging |
Het |
Chil4 |
A |
G |
3: 106,109,913 (GRCm39) |
F367L |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,365,132 (GRCm39) |
Y458C |
probably damaging |
Het |
Cplane2 |
A |
G |
4: 140,944,696 (GRCm39) |
I82M |
probably benign |
Het |
Ctsw |
T |
C |
19: 5,518,486 (GRCm39) |
Y9C |
probably benign |
Het |
Dhrs7 |
T |
C |
12: 72,706,255 (GRCm39) |
D50G |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,584,799 (GRCm39) |
K3177E |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,251 (GRCm39) |
F83L |
probably benign |
Het |
Eif5a2 |
G |
A |
3: 28,836,886 (GRCm39) |
V59I |
possibly damaging |
Het |
Emilin3 |
T |
A |
2: 160,751,238 (GRCm39) |
|
probably null |
Het |
Entpd8 |
A |
G |
2: 24,975,066 (GRCm39) |
S426G |
possibly damaging |
Het |
Epb41l4b |
C |
T |
4: 57,040,984 (GRCm39) |
G493D |
probably damaging |
Het |
Gm11596 |
C |
T |
11: 99,683,698 (GRCm39) |
G141R |
unknown |
Het |
Gpi-ps |
T |
G |
8: 5,690,130 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q4 |
T |
C |
17: 35,599,417 (GRCm39) |
Y167H |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
G |
6: 108,382,490 (GRCm39) |
|
probably null |
Het |
Kif2c |
A |
T |
4: 117,032,066 (GRCm39) |
|
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,096,751 (GRCm39) |
|
noncoding transcript |
Het |
Krtap9-5 |
A |
T |
11: 99,840,294 (GRCm39) |
T332S |
unknown |
Het |
Lrrc39 |
A |
T |
3: 116,373,189 (GRCm39) |
E283V |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,069,528 (GRCm39) |
S447P |
possibly damaging |
Het |
Mindy1 |
G |
A |
3: 95,202,710 (GRCm39) |
V425M |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
Muc3a |
T |
A |
5: 137,244,997 (GRCm39) |
T159S |
probably damaging |
Het |
Or10ad1b |
T |
A |
15: 98,124,642 (GRCm39) |
I295F |
probably damaging |
Het |
Or4a79 |
T |
A |
2: 89,551,745 (GRCm39) |
T237S |
probably damaging |
Het |
Or4f6 |
A |
T |
2: 111,838,937 (GRCm39) |
M198K |
probably damaging |
Het |
Pcdhga4 |
G |
A |
18: 37,818,648 (GRCm39) |
V66I |
probably benign |
Het |
Pdhx |
T |
C |
2: 102,871,422 (GRCm39) |
T203A |
probably damaging |
Het |
Pdss1 |
A |
G |
2: 22,789,929 (GRCm39) |
|
probably null |
Het |
Pdxk |
G |
T |
10: 78,286,141 (GRCm39) |
Q103K |
probably benign |
Het |
Peg3 |
A |
G |
7: 6,711,419 (GRCm39) |
C1268R |
probably damaging |
Het |
Pitpnc1 |
A |
T |
11: 107,187,093 (GRCm39) |
S77T |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,874,990 (GRCm39) |
|
probably benign |
Het |
Poc1b |
C |
T |
10: 98,943,703 (GRCm39) |
T22I |
probably damaging |
Het |
Ppfia1 |
G |
A |
7: 144,060,001 (GRCm39) |
R604W |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,680 (GRCm39) |
F189S |
probably damaging |
Het |
Rbks |
T |
A |
5: 31,807,795 (GRCm39) |
Y99* |
probably null |
Het |
Sh3rf2 |
G |
T |
18: 42,186,989 (GRCm39) |
C36F |
probably damaging |
Het |
Spock3 |
T |
A |
8: 63,798,889 (GRCm39) |
N303K |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,626,357 (GRCm39) |
V1198I |
probably benign |
Het |
Tmem163 |
A |
T |
1: 127,428,013 (GRCm39) |
V191D |
probably damaging |
Het |
Trappc6b |
A |
G |
12: 59,097,094 (GRCm39) |
V76A |
probably damaging |
Het |
Ube2nl |
A |
G |
7: 61,199,280 (GRCm39) |
|
noncoding transcript |
Het |
Unc5d |
C |
T |
8: 29,184,704 (GRCm39) |
V599M |
possibly damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,346 (GRCm39) |
M31L |
probably benign |
Het |
Vrtn |
C |
A |
12: 84,696,248 (GRCm39) |
Q333K |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,298,008 (GRCm39) |
F163I |
possibly damaging |
Het |
Zfyve1 |
C |
T |
12: 83,602,421 (GRCm39) |
R458H |
probably damaging |
Het |
|
Other mutations in Tcaf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Tcaf2
|
APN |
6 |
42,606,970 (GRCm39) |
nonsense |
probably null |
|
IGL00909:Tcaf2
|
APN |
6 |
42,601,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01448:Tcaf2
|
APN |
6 |
42,607,262 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01870:Tcaf2
|
APN |
6 |
42,601,411 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02133:Tcaf2
|
APN |
6 |
42,604,330 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02208:Tcaf2
|
APN |
6 |
42,606,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02666:Tcaf2
|
APN |
6 |
42,606,058 (GRCm39) |
splice site |
probably benign |
|
jiaozhi
|
UTSW |
6 |
42,603,371 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4260001:Tcaf2
|
UTSW |
6 |
42,619,739 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4382001:Tcaf2
|
UTSW |
6 |
42,601,300 (GRCm39) |
makesense |
probably null |
|
R0029:Tcaf2
|
UTSW |
6 |
42,607,093 (GRCm39) |
nonsense |
probably null |
|
R0029:Tcaf2
|
UTSW |
6 |
42,607,093 (GRCm39) |
nonsense |
probably null |
|
R0047:Tcaf2
|
UTSW |
6 |
42,606,547 (GRCm39) |
missense |
probably benign |
|
R0047:Tcaf2
|
UTSW |
6 |
42,606,547 (GRCm39) |
missense |
probably benign |
|
R0255:Tcaf2
|
UTSW |
6 |
42,619,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0617:Tcaf2
|
UTSW |
6 |
42,619,445 (GRCm39) |
missense |
probably damaging |
0.97 |
R1387:Tcaf2
|
UTSW |
6 |
42,601,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Tcaf2
|
UTSW |
6 |
42,601,385 (GRCm39) |
nonsense |
probably null |
|
R1529:Tcaf2
|
UTSW |
6 |
42,606,440 (GRCm39) |
missense |
probably benign |
0.03 |
R1698:Tcaf2
|
UTSW |
6 |
42,604,951 (GRCm39) |
nonsense |
probably null |
|
R1992:Tcaf2
|
UTSW |
6 |
42,606,791 (GRCm39) |
missense |
probably benign |
|
R2065:Tcaf2
|
UTSW |
6 |
42,604,981 (GRCm39) |
missense |
probably benign |
0.12 |
R2144:Tcaf2
|
UTSW |
6 |
42,619,738 (GRCm39) |
missense |
probably benign |
0.45 |
R2435:Tcaf2
|
UTSW |
6 |
42,607,298 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2519:Tcaf2
|
UTSW |
6 |
42,606,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3979:Tcaf2
|
UTSW |
6 |
42,619,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Tcaf2
|
UTSW |
6 |
42,619,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R4532:Tcaf2
|
UTSW |
6 |
42,603,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R4780:Tcaf2
|
UTSW |
6 |
42,604,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4906:Tcaf2
|
UTSW |
6 |
42,606,679 (GRCm39) |
missense |
probably benign |
0.02 |
R4993:Tcaf2
|
UTSW |
6 |
42,619,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Tcaf2
|
UTSW |
6 |
42,619,707 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5644:Tcaf2
|
UTSW |
6 |
42,619,707 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5975:Tcaf2
|
UTSW |
6 |
42,619,712 (GRCm39) |
missense |
probably benign |
0.22 |
R6234:Tcaf2
|
UTSW |
6 |
42,607,308 (GRCm39) |
missense |
probably benign |
|
R6269:Tcaf2
|
UTSW |
6 |
42,604,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R6276:Tcaf2
|
UTSW |
6 |
42,606,687 (GRCm39) |
missense |
probably benign |
0.04 |
R6375:Tcaf2
|
UTSW |
6 |
42,603,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R6523:Tcaf2
|
UTSW |
6 |
42,619,953 (GRCm39) |
missense |
probably benign |
0.01 |
R6825:Tcaf2
|
UTSW |
6 |
42,606,452 (GRCm39) |
missense |
probably benign |
0.05 |
R7039:Tcaf2
|
UTSW |
6 |
42,603,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R7099:Tcaf2
|
UTSW |
6 |
42,607,275 (GRCm39) |
missense |
probably benign |
0.02 |
R7284:Tcaf2
|
UTSW |
6 |
42,606,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Tcaf2
|
UTSW |
6 |
42,606,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7964:Tcaf2
|
UTSW |
6 |
42,606,640 (GRCm39) |
missense |
probably benign |
|
R8270:Tcaf2
|
UTSW |
6 |
42,606,958 (GRCm39) |
missense |
probably benign |
0.30 |
R8505:Tcaf2
|
UTSW |
6 |
42,606,475 (GRCm39) |
missense |
probably benign |
0.18 |
R8702:Tcaf2
|
UTSW |
6 |
42,619,701 (GRCm39) |
missense |
probably benign |
0.11 |
R8788:Tcaf2
|
UTSW |
6 |
42,606,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Tcaf2
|
UTSW |
6 |
42,601,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R9374:Tcaf2
|
UTSW |
6 |
42,619,728 (GRCm39) |
missense |
probably benign |
0.02 |
R9379:Tcaf2
|
UTSW |
6 |
42,619,517 (GRCm39) |
missense |
probably benign |
0.00 |
Y4339:Tcaf2
|
UTSW |
6 |
42,606,406 (GRCm39) |
missense |
probably benign |
|
Y4341:Tcaf2
|
UTSW |
6 |
42,606,406 (GRCm39) |
missense |
probably benign |
|
Z1177:Tcaf2
|
UTSW |
6 |
42,606,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCATCCCAGGCTTAACTAAG -3'
(R):5'- TTATCTGTGCACCGGATCCTG -3'
Sequencing Primer
(F):5'- CTGGATCTCACTGTCTTGGAAAGATC -3'
(R):5'- CCGGATCCTGAGGAAGATACTGC -3'
|
Posted On |
2016-06-21 |